Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …

Non-small cell lung cancer (NSCLC) has the highest mortality rate among all malignancies
worldwide. The role of long noncoding RNAs (lncRNAs) in the progression of cancers is a …

Mitochondria are critical subcellular organelles that are required for several metabolic
processes, including oxidative phosphorylation, as well as signaling and tissue‐specific …

The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

RMRP encodes a non-coding RNA forming the core of the RNase MRP ribonucleoprotein
complex. Mutations cause Cartilage Hair Hypoplasia (CHH), characterized by skeletal …

Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they
are a source of miRNAs. We show that the 268-nt non-coding RNA component of …

Cartilage‐hair hypoplasia (CHH) is an autosomal recessive syndromic immunodeficiency
with skeletal dysplasia, short stature, hypotrichosis, variable degree of immune dysfunction …

Advanced genetic and biochemical techniques have helped to expand our knowledge of
congenital neutropenia syndromes. Known and novel genetic entities shed light on …

RMRP was the first non-coding nuclear RNA gene implicated in a disease. Its mutations
cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with …

Newborn screening for SCID has revealed the association of low T cells with a number of
unexpected syndromes associated with low T cells, some of which were not appreciated to …